Publications by authors named "Fowzan S Alkuraya"

99Publications

Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.

Am J Med Genet A 2020 Sep 19. Epub 2020 Sep 19.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.61876DOI Listing
September 2020

Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition.

Clin Genet 2020 Sep 14. Epub 2020 Sep 14.

Centre de Génétique Humaine, CHU, Université de Franche-Comté, Besançon, France.

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http://dx.doi.org/10.1111/cge.13821DOI Listing
September 2020

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

Hum Mol Genet 2020 Sep 3. Epub 2020 Sep 3.

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada, H3A 2B4.

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http://dx.doi.org/10.1093/hmg/ddaa198DOI Listing
September 2020

Confirming TBC1D32-related ciliopathy in humans.

Am J Med Genet A 2020 Jun 23. Epub 2020 Jun 23.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.61717DOI Listing
June 2020

A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.

J Clin Immunol 2020 Aug 8;40(6):833-839. Epub 2020 Jun 8.

College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s10875-020-00800-yDOI Listing
August 2020

DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification.

Nat Commun 2020 05 19;11(1):2510. Epub 2020 May 19.

Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA.

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http://dx.doi.org/10.1038/s41467-020-16321-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237682PMC
May 2020

The natural history of infantile neuroaxonal dystrophy.

Orphanet J Rare Dis 2020 05 1;15(1):109. Epub 2020 May 1.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/s13023-020-01355-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193406PMC
May 2020

A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.

Eur J Med Genet 2020 Jun 19;63(6):103917. Epub 2020 Mar 19.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103917DOI Listing
June 2020

Phenotypic expansion of OTUD6B-related syndrome.

Am J Med Genet A 2020 06 17;182(6):1530-1531. Epub 2020 Mar 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.61548DOI Listing
June 2020

A genomics approach to females with infertility and recurrent pregnancy loss.

Hum Genet 2020 May 14;139(5):605-613. Epub 2020 Mar 14.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-020-02143-5DOI Listing
May 2020

CNP deficiency causes severe hypomyelinating leukodystrophy in humans.

Hum Genet 2020 May 3;139(5):615-622. Epub 2020 Mar 3.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-020-02144-4DOI Listing
May 2020

Further delineation of METTL23-associated intellectual disability.

Am J Med Genet A 2020 04 18;182(4):785-791. Epub 2020 Feb 18.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.61503DOI Listing
April 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.

Hum Mutat 2020 Mar 16;41(3):600-607. Epub 2020 Jan 16.

Department of Biology, Center for RNA Biology, University of Rochester, Rochester, New York.

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http://dx.doi.org/10.1002/humu.23976DOI Listing
March 2020

Confirming the recessive inheritance of PERP-related erythrokeratoderma.

Clin Genet 2020 Apr 12;97(4):661-665. Epub 2020 Jan 12.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/cge.13699DOI Listing
April 2020

Evolution and Impact of Subclonal Mutations in Papillary Thyroid Cancer.

Am J Hum Genet 2019 11 24;105(5):959-973. Epub 2019 Oct 24.

Human Cancer Genomic Research, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849094PMC
November 2019

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Am J Hum Genet 2019 11 17;105(5):1016-1022. Epub 2019 Oct 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297193036
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http://dx.doi.org/10.1016/j.ajhg.2019.09.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848991PMC
November 2019

Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1.

Ophthalmol Retina 2020 01 22;4(1):77-83. Epub 2019 Aug 22.

Vitreoretinal Division, King Khalid Eye Specialist Hospital, Riyadh, Saudi Arabia; Department of Ophthalmology, Clinical Sciences, Skane County University Hospital, University of Lund, Lund, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.oret.2019.08.005DOI Listing
January 2020

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:
Dorota Monies Mohammed Abouelhoda Mirna Assoum Nabil Moghrabi Rafiullah Rafiullah Naif Almontashiri Mohammed Alowain Hamad Alzaidan Moeen Alsayed Shazia Subhani Edward Cupler Maha Faden Amal Alhashem Alya Qari Aziza Chedrawi Hisham Aldhalaan Wesam Kurdi Sameena Khan Zuhair Rahbeeni Maha Alotaibi Ewa Goljan Hadeel Elbardisy Mohamed ElKalioby Zeeshan Shah Hibah Alruwaili Amal Jaafar Ranad Albar Asma Akilan Hamsa Tayeb Asma Tahir Mohammed Fawzy Mohammed Nasr Shaza Makki Abdullah Alfaifi Hanna Akleh Suad Yamani Dalal Bubshait Mohammed Mahnashi Talal Basha Afaf Alsagheir Musad Abu Khaled Khalid Alsaleem Maisoon Almugbel Manal Badawi Fahad Bashiri Saeed Bohlega Raashida Sulaiman Ehab Tous Syed Ahmed Talal Algoufi Hamoud Al-Mousa Emadia Alaki Susan Alhumaidi Hadeel Alghamdi Malak Alghamdi Ahmed Sahly Shapar Nahrir Ali Al-Ahmari Hisham Alkuraya Ali Almehaidib Mohammed Abanemai Fahad Alsohaibaini Bandar Alsaud Rand Arnaout Ghada M H Abdel-Salam Hasan Aldhekri Suzan AlKhater Khalid Alqadi Essam Alsabban Turki Alshareef Khalid Awartani Hanaa Banjar Nada Alsahan Ibraheem Abosoudah Abdullah Alashwal Wajeeh Aldekhail Sami Alhajjar Sulaiman Al-Mayouf Abdulaziz Alsemari Walaa Alshuaibi Saeed Altala Abdulhadi Altalhi Salah Baz Muddathir Hamad Tariq Abalkhail Badi Alenazi Alya Alkaff Fahad Almohareb Fuad Al Mutairi Mona Alsaleh Abdullah Alsonbul Somaya Alzelaye Shakir Bahzad Abdulaziz Bin Manee Ola Jarrad Neama Meriki Bassem Albeirouti Amal Alqasmi Mohammed AlBalwi Nawal Makhseed Saeed Hassan Isam Salih Mustafa A Salih Marwan Shaheen Saadeh Sermin Shamsad Shahrukh Shahrukh Hashmi Ayman Shawli Ameen Tajuddin Abdullah Tamim Ahmed Alnahari Ibrahim Ghemlas Maged Hussein Sami Wali Hatem Murad Brian F Meyer Fowzan S Alkuraya

Am J Hum Genet 2019 Oct;105(4):879

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http://dx.doi.org/10.1016/j.ajhg.2019.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817532PMC
October 2019

A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis.

Eur J Hum Genet 2020 Apr 30;28(4):525-528. Epub 2019 Sep 30.

Department of Pediatrics, Prince Sultan Military Medical City, Riyad, Saudi Arabia.

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http://dx.doi.org/10.1038/s41431-019-0524-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7080731PMC
April 2020

A de novo mutation in FMR1 in a patient with intellectual disability.

Eur J Med Genet 2020 Mar 10;63(3):103763. Epub 2019 Sep 10.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103763DOI Listing
March 2020

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:
Dorota Monies Mohammed Abouelhoda Mirna Assoum Nabil Moghrabi Rafiullah Rafiullah Naif Almontashiri Mohammed Alowain Hamad Alzaidan Moeen Alsayed Shazia Subhani Edward Cupler Maha Faden Amal Alhashem Alya Qari Aziza Chedrawi Hisham Aldhalaan Wesam Kurdi Sameena Khan Zuhair Rahbeeni Maha Alotaibi Ewa Goljan Hadeel Elbardisy Mohamed ElKalioby Zeeshan Shah Hibah Alruwaili Amal Jaafar Ranad Albar Asma Akilan Hamsa Tayeb Asma Tahir Mohammed Fawzy Mohammed Nasr Shaza Makki Abdullah Alfaifi Hanna Akleh Suad Yamani Dalal Bubshait Mohammed Mahnashi Talal Basha Afaf Alsagheir Musad Abu Khaled Khalid Alsaleem Maisoon Almugbel Manal Badawi Fahad Bashiri Saeed Bohlega Raashida Sulaiman Ehab Tous Syed Ahmed Talal Algoufi Hamoud Al-Mousa Emadia Alaki Susan Alhumaidi Hadeel Alghamdi Malak Alghamdi Ahmed Sahly Shapar Nahrir Ali Al-Ahmari Hisham Alkuraya Ali Almehaidib Mohammed Abanemai Fahad Alsohaibaini Bandar Alsaud Rand Arnaout Ghada M H Abdel-Salam Hasan Aldhekri Suzan AlKhater Khalid Alqadi Essam Alsabban Turki Alshareef Khalid Awartani Hanaa Banjar Nada Alsahan Ibraheem Abosoudah Abdullah Alashwal Wajeeh Aldekhail Sami Alhajjar Sulaiman Al-Mayouf Abdulaziz Alsemari Walaa Alshuaibi Saeed Altala Abdulhadi Altalhi Salah Baz Muddathir Hamad Tariq Abalkhail Badi Alenazi Alya Alkaff Fahad Almohareb Fuad Al Mutairi Mona Alsaleh Abdullah Alsonbul Somaya Alzelaye Shakir Bahzad Abdulaziz Bin Manee Ola Jarrad Neama Meriki Bassem Albeirouti Amal Alqasmi Mohammed AlBalwi Nawal Makhseed Saeed Hassan Isam Salih Mustafa A Salih Marwan Shaheen Saadeh Sermin Shamsad Shahrukh Shahrukh Hashmi Ayman Shawli Ameen Tajuddin Abdullah Tamim Ahmed Alnahari Ibrahim Ghemlas Maged Hussein Sami Wali Hatem Murad Brian F Meyer Fowzan S Alkuraya

Am J Hum Genet 2019 06 23;104(6):1182-1201. Epub 2019 May 23.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562004PMC
June 2019

Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.

Am J Hum Genet 2019 06 9;104(6):1202-1209. Epub 2019 May 9.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556876PMC
June 2019

The landscape of early infantile epileptic encephalopathy in a consanguineous population.

Seizure 2019 Jul 27;69:154-172. Epub 2019 Apr 27.

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183064
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http://dx.doi.org/10.1016/j.seizure.2019.04.018DOI Listing
July 2019

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.

Am J Med Genet A 2019 06 26;179(6):1053-1057. Epub 2019 Mar 26.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.61133DOI Listing
June 2019

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

Am J Hum Genet 2019 04 21;104(4):731-737. Epub 2019 Mar 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12371, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451727PMC
April 2019

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

Hum Genet 2019 Mar 18;138(3):231-239. Epub 2019 Feb 18.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-019-01980-3DOI Listing
March 2019

NUP214 deficiency causes severe encephalopathy and microcephaly in humans.

Hum Genet 2019 Mar 13;138(3):221-229. Epub 2019 Feb 13.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-019-01979-wDOI Listing
March 2019

A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome.

Eur J Med Genet 2020 Jan 14;63(1):103615. Epub 2019 Jan 14.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.01.005DOI Listing
January 2020

Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.

Am J Med Genet A 2019 02 20;179(2):266-279. Epub 2018 Dec 20.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://doi.wiley.com/10.1002/ajmg.a.60694
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http://dx.doi.org/10.1002/ajmg.a.60694DOI Listing
February 2019

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.

Hum Genet 2019 Jan 27;138(1):105-107. Epub 2018 Nov 27.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-018-1963-3DOI Listing
January 2019

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

Am J Hum Genet 2018 10 27;103(4):612-620. Epub 2018 Sep 27.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; Renal Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174286PMC
October 2018

Warsaw breakage syndrome: Further clinical and genetic delineation.

Am J Med Genet A 2018 11 14;176(11):2404-2418. Epub 2018 Sep 14.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.40482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289708PMC
November 2018

Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.

Ophthalmic Genet 2018 10 1;39(5):577-583. Epub 2018 Aug 1.

c Department of Genetics , King Faisal Specialist Hospital and Research Center , Riyadh , Saudi Arabia.

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http://dx.doi.org/10.1080/13816810.2018.1498528DOI Listing
October 2018

Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice.

Sci Rep 2018 06 15;8(1):9202. Epub 2018 Jun 15.

Comparative Medicine Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1038/s41598-018-27379-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003934PMC
June 2018

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

Genet Med 2019 01 11;21(1):185-188. Epub 2018 Jun 11.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1038/s41436-018-0014-8DOI Listing
January 2019

Congenital glaucoma and CYP1B1: an old story revisited.

Hum Genet 2019 Sep 19;138(8-9):1043-1049. Epub 2018 Mar 19.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-018-1878-zDOI Listing
September 2019

A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin.

Ann Neurol 2018 02 9;83(2):433-436. Epub 2018 Feb 9.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://doi.wiley.com/10.1002/ana.25152
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http://dx.doi.org/10.1002/ana.25152DOI Listing
February 2018